Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.H326R
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DES

NM_001927.4:p.H326R

Associated Papers

Combination of FLNC and JUP variants causing arrhythmogenic cardiomyopathy in an Iranian family with different clinical features.

Mehdizadeh K et al.

Bmc Cardiovascular Disorders, 2024

A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.

Bueno Marinas M et al.

International Journal of Molecular Sciences, 2024

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.

James CA et al.

Circulation. Genomic and Precision Medicine, 2021

33831308 (PubMed )
Supplement: hcg-14-e003273-s001.pdf

Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.

Zhang W et al.

Frontiers in Chemistry, 2021

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.

Towbin JA et al.

Heart Rhythm, 2019

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

Brodehl A et al.

Circulation. Cardiovascular Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."